Incidental Mutation 'R2389:Actr5'
| ID |
247721 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actr5
|
| Ensembl Gene |
ENSMUSG00000037761 |
| Gene Name |
ARP5 actin-related protein 5 |
| Synonyms |
B430109J19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2389 (G1)
|
| Quality Score |
180 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
158466808-158481131 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 158467132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 24
(V24A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045644]
[ENSMUST00000183731]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045644
AA Change: V24A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046658
Gene: ENSMUSG00000037761
AA Change: V24A
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
30 |
571 |
1.15e-36 |
SMART |
|
low complexity region
|
593 |
605 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183731
AA Change: V24A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139110
Gene: ENSMUSG00000037761
AA Change: V24A
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
30 |
399 |
3.1e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1 |
C |
A |
2: 179,816,116 (GRCm39) |
|
probably benign |
Het |
| Cdk13 |
T |
A |
13: 17,926,361 (GRCm39) |
H813L |
probably damaging |
Het |
| Cdkal1 |
T |
A |
13: 29,736,219 (GRCm39) |
H300L |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,961,057 (GRCm39) |
I235V |
probably benign |
Het |
| Ctnnd1 |
T |
A |
2: 84,454,615 (GRCm39) |
Q11L |
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,122,618 (GRCm39) |
I2113V |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,547,684 (GRCm39) |
|
probably null |
Het |
| Gria2 |
A |
G |
3: 80,609,932 (GRCm39) |
W626R |
probably damaging |
Het |
| Kctd1 |
A |
G |
18: 15,195,268 (GRCm39) |
S452P |
possibly damaging |
Het |
| Kdm4c |
T |
C |
4: 74,252,107 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Nat8f7 |
C |
A |
6: 85,684,476 (GRCm39) |
M121I |
probably benign |
Het |
| Ppfibp1 |
A |
T |
6: 146,923,669 (GRCm39) |
H667L |
probably damaging |
Het |
| Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,280,670 (GRCm39) |
N452D |
possibly damaging |
Het |
| Rab17 |
T |
C |
1: 90,891,926 (GRCm39) |
T33A |
probably benign |
Het |
| Rxfp3 |
A |
G |
15: 11,036,770 (GRCm39) |
C201R |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,014,153 (GRCm39) |
Y2142C |
probably benign |
Het |
| Stx6 |
T |
C |
1: 155,073,164 (GRCm39) |
V225A |
possibly damaging |
Het |
| Ugt2b5 |
G |
A |
5: 87,275,541 (GRCm39) |
P437S |
probably damaging |
Het |
| Usp13 |
A |
G |
3: 32,959,613 (GRCm39) |
K568R |
probably benign |
Het |
| Zan |
A |
G |
5: 137,474,642 (GRCm39) |
|
probably null |
Het |
| Zbtb8b |
T |
C |
4: 129,327,066 (GRCm39) |
E33G |
probably benign |
Het |
| Zcchc17 |
T |
A |
4: 130,220,997 (GRCm39) |
K185* |
probably null |
Het |
|
| Other mutations in Actr5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01609:Actr5
|
APN |
2 |
158,478,722 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02622:Actr5
|
APN |
2 |
158,480,728 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02707:Actr5
|
APN |
2 |
158,478,617 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0610:Actr5
|
UTSW |
2 |
158,474,376 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1467:Actr5
|
UTSW |
2 |
158,480,617 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1467:Actr5
|
UTSW |
2 |
158,480,617 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1720:Actr5
|
UTSW |
2 |
158,478,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1869:Actr5
|
UTSW |
2 |
158,480,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1937:Actr5
|
UTSW |
2 |
158,477,949 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2051:Actr5
|
UTSW |
2 |
158,474,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2420:Actr5
|
UTSW |
2 |
158,478,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Actr5
|
UTSW |
2 |
158,478,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2909:Actr5
|
UTSW |
2 |
158,467,140 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4089:Actr5
|
UTSW |
2 |
158,467,022 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4719:Actr5
|
UTSW |
2 |
158,468,433 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4737:Actr5
|
UTSW |
2 |
158,469,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Actr5
|
UTSW |
2 |
158,467,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Actr5
|
UTSW |
2 |
158,477,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5341:Actr5
|
UTSW |
2 |
158,467,144 (GRCm39) |
nonsense |
probably null |
|
|
R5457:Actr5
|
UTSW |
2 |
158,477,918 (GRCm39) |
splice site |
probably null |
|
|
R6328:Actr5
|
UTSW |
2 |
158,477,264 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7158:Actr5
|
UTSW |
2 |
158,468,334 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8526:Actr5
|
UTSW |
2 |
158,474,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8789:Actr5
|
UTSW |
2 |
158,478,604 (GRCm39) |
nonsense |
probably null |
|
|
R9000:Actr5
|
UTSW |
2 |
158,478,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9030:Actr5
|
UTSW |
2 |
158,474,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9222:Actr5
|
UTSW |
2 |
158,473,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9316:Actr5
|
UTSW |
2 |
158,477,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9563:Actr5
|
UTSW |
2 |
158,470,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Actr5
|
UTSW |
2 |
158,470,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Actr5
|
UTSW |
2 |
158,470,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Actr5
|
UTSW |
2 |
158,468,328 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Actr5
|
UTSW |
2 |
158,478,625 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGGAATCAGGTGCTGAAAC -3'
(R):5'- TGCTGGAAGCTGTAGTCCAG -3'
Sequencing Primer
(F):5'- GCTGAAACCAGCGAGTCCTC -3'
(R):5'- TGTAGTCCAGCAGCAGTTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation